Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Volkan Okur"'
Autor:
Volkan Okur, Sowmya Thirumalai Srinivasa, Amanda Halstrom, John Falcone, Atteeq Rehman, Amanda Thomas-Wilson, Saurav Guha, Shruti Phadke, Avinash Abhyankar, Ashley Wilson, Caroline Nava, Shahid Khan, Maurice Hurd, Sarah Stewart, Katerine Claudio, Anne Jablonski, Jyothi Manohar, Sonal Kumar, Michele Yeung, Gregory Dakin, Omar Bellorin-Marin, Cheguevara Afaneh, Lisa Hudgins, Jessica Pena, Esther Wei, Laura Gingras, Alexandra King, Judy Tung, Shuibing Chen, Ryan Smith, Theresa MacDonald, Megan Ritter, Lauro Alonso, Olivier Elemento, Miriam Udler, Marcus Goncalves, Vaidehi Jobanputra
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101495- (2024)
Externí odkaz:
https://doaj.org/article/95791a9a237349458b2f4adf19bf07df
Autor:
Vaidehi Jobanputra, Jessica Giordano, Josie Pervola, Ashley Wilson, Saurav Guha, Amanda Thomas-Wilson, Atteeq Rehman, Volkan Okur, Ted Han, Cecilia Esteves, Alexandra Tinfow, Stephanie Galloway, Sowmya T. Srinivasa, Shahid Khan, Poppy Brace, Caroline Nava, Hannah Perrin, Bruce Elder, Endre Hegedus, Vanessa Felice, Shruti Phadke, Avinash Abhyankar, Ronald Wapner
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101663- (2024)
Externí odkaz:
https://doaj.org/article/a540352d9fb3415b88443ef717db14f3
Autor:
Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, Vaidehi Jobanputra
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101672- (2024)
Externí odkaz:
https://doaj.org/article/b54e5dd456704f24879c40fac9d912e1
Autor:
Amanda Thomas-Wilson, Nina Harkavy, Corbin Schwanke, Jonathan Schoof, Sowmya Thirumalai Srinivasa, Saurav Guha, Atteeq Rehman, Volkan Okur, Jessica Giordano, Abdallah Elias, Ronald Wapner, Vaidehi Jobanputra
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101683- (2024)
Externí odkaz:
https://doaj.org/article/83edd51a7e11435eaf702262c62940e0
Autor:
Jessica Giordano, Josie Pervola, Ashley Wilson, Atteeq Rehman, Amanda Thomas-Wilson, Saurav Guha, Volkan Okur, Alexandra Tinfow, Stephanie Galloway, Hannah Perrin, Cecilia Esteves, Poppy Brace, Caitlin Baptiste, Sowmya Thirumalai Srinivasa, Shahid Khan, Bruce Elder, Endre Hegedus, Vanessa Felice, Shruti Phadke, Avinash Abhyankar, Vaidehi Jobanputra, Ronald Wapner
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101688- (2024)
Externí odkaz:
https://doaj.org/article/50f51b3107174b099b134e771f6910f3
Autor:
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M. Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L. Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E. McCandless, Chantal F. Morel, G. Bradley Schaefer, Elizabeth M. Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A. Scott, James R. Lupski, Christine M. Eng, Nan Wu, Bo Yuan
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract The histone H3 variant H3.3, encoded by two genes H3-3A and H3-3B, can replace canonical isoforms H3.1 and H3.2. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment. The role of H3.3 in somatic canc
Externí odkaz:
https://doaj.org/article/29cca276969242bdad121202e7d7f164
Autor:
Prasida Unni, Jack Friend, Janice Weinberg, Volkan Okur, Jennifer Hochscherf, Isabel Dominguez
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Okur-Chung Neurodevelopmental Syndrome (OCNDS) and Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) were recently identified as rare neurodevelopmental disorders. OCNDS and POBINDS are associated with heterozygous mutations in the CSNK2A1 and C
Externí odkaz:
https://doaj.org/article/a9a3d5b0648b46458f328d3b63f24f1e
Autor:
Volkan Okur, Kubra Akinci
Publikováno v:
Advances in Materials Science and Engineering, Vol 2018 (2018)
A series of laboratory tests using resonant column and dynamic torsional shear tests were conducted on kaolinite and montmorillonite clays treated with boron waste. The effect of the boron waste on the dynamic characteristics of two clays was studied
Externí odkaz:
https://doaj.org/article/2cee4d4f08164aa28dfb73de63b74816
Publikováno v:
The Scientific World Journal, Vol 2015 (2015)
Using waste rubber in asphalt mixes has become a common practice in road construction. This paper presents the results of a study on the rheological characteristics of rubber-modified asphalt (RMA) concrete under static and dynamic loading conditions
Externí odkaz:
https://doaj.org/article/607e5964b1014c32acdd6c96890ff660
Autor:
Jacqueline A. Odgis, Katie M. Gallagher, Atteeq U. Rehman, Priya N. Marathe, Katherine E. Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R. Kelly, Michelle A. Ramos, Amanda Thomas‐Wilson, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E. Zinberg, Noura S. Abul‐Husn, George A. Diaz, John M. Greally, Sabrina A. Suckiel, Vaidehi Jobanputra, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein, Bruce D. Gelb
Publikováno v:
American Journal of Medical Genetics Part A. 191:699-710
The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS)